Canonical Allele Identifier: CA913046764
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598653_7598656del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533767_7533770del , CM000681.2:g.7533767_7533770del GRCh38
NC_000019.9:g.7598653_7598656del , CM000681.1:g.7598653_7598656del GRCh37
NC_000019.8:g.7504653_7504656del NCBI36
NG_013374.1:g.4616_4619del
NG_015806.1:g.16158_16161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1715_1718del MANE Select ENSP00000264079.5:p.Ser572TrpfsTer7
ENST00000264079.10:c.1715_1718del ENSP00000264079.5:p.Ser572TrpfsTer7
ENST00000394321.9:n.2030_2033del
ENST00000599334.1:c.443_446del
ENST00000601870.1:c.68_71del
ENST00000602227.1:n.269_272del
NM_020533.2:c.1715_1718del NP_065394.1:p.Ser572TrpfsTer7
NM_020533.3:c.1715_1718del MANE Select NP_065394.1:p.Ser572TrpfsTer7
Search 100 bp 5'
Search 100 bp 3'